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Ulla Lantto, Sallamaaria Kettunen, Terhi Tapiainen, Petri Koivunen, Matti Uhari, Marjo Renko
OBJECTIVES: To compare the long-term morbidity of patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome treated by tonsillectomy (TE) in childhood to that of matched controls. METHODS: We identified 132 PFAPA patients from the medical records treated by TE in 1987-2007 in Oulu University Hospital, Finland. Altogether 119 patients participated the follow-up study and 94 were clinically examined on average 9.0 years after TE...
February 27, 2018: Clinical and Experimental Rheumatology
Jostein Førsvoll, Knut Øymar
Background: Tonsillectomy (TE) or adenotonsillectomy (ATE) may have a beneficial effect on the clinical course in children with the Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis (PFAPA) syndrome. However, an immunological reason for this effect remains unknown. This literature review summarizes the current knowledge of the effect of TE or ATE in the PFAPA syndrome. Methods: A search of PubMed, Medline, EMBASE and Cochrane was conducted for papers written in English dated from 1 January 1987 to 31 December 2016...
2018: BMC Ear, Nose, and Throat Disorders
Silvia De Pauli, Sara Lega, Serena Pastore, Domenico Leonardo Grasso, Anna Monica Rosaria Bianco, Giovanni Maria Severini, Alberto Tommasini, Andrea Taddio
AIM: To describe the frequency and clinical characteristics of patients with undifferentiated periodic fever (UPF) and to investigate whether a clinical classification of UPF based on the PRINTO-Eurofever score can help predicting the response to treatment and the outcome at follow-up. METHODS: Clinical and therapeutic information of patients with recurrent fever who presented at a single pediatric rheumatology center from January 2006 through April 2016 were retrospectively collected...
February 8, 2018: World Journal of Clinical Pediatrics
María de Las Mercedes Ibáñez Alcalde, Laura Caldevilla Asenjo, Cristina Calvo Rey, Fernando García-Mon Marañés, Daniel Blázquez Gamero, Jesús Saavedra Lozano, María Luisa Navarro Gómez, Teresa Hernández-Sampelayo Matos, Mar Santos Sebastián
INTRODUCTION: PFAPA syndrome is an autoinflammatory disease whose diagnosis is mainly clinical. Several treatments have been proposed; among them, tonsillectomy could be an effective one. MATERIAL AND METHODS: Retrospective multicenter study. Patients included were diagnosed with PFAPA syndrome, according to the Thomas criteria, in 3 hospitals in Madrid between 2009-2013. RESULTS: Thirty-two cases were included. Median age at onset and at diagnosis were 32 months (IQR 24-44) and 47...
December 8, 2017: Reumatología Clinica
Ozturk Aktas, Hande Gurbuz Aytuluk, Sebla Kumas Caliskan, Omer Erdur, Ahmet Adnan Cirik
INTRODUCTION: The role of tonsillectomy in the periodic fever, aphthous stomatitis, pharyngitis, and adenitis, PFAPA syndrome, is controversial. Although some studies reported high success rates with tonsillectomy, further investigations are needed with larger numbers of patients. OBJECTIVE: To seek the long-term outcomes of tonsillectomy in PFAPA syndrome. METHODS: Case series; multi-center study. The study comprised 23 patients with PFAPA syndrome who underwent surgery (tonsillectomy with or without adenoidectomy) between January 2009 and November 2014...
November 21, 2017: Brazilian Journal of Otorhinolaryngology
Esra Pehlivan, Amra Adrovic, Sezgin Sahin, Kenan Barut, Ovgu Kul Cınar, Ozgur Kasapcopur
We reviewed the medical records of patients with periodic fever, aphthosis, pharyngitis, and adenitis (PFAPA) to investigate the clinical course, treatment response, and association with MEFV gene mutation. Familial Mediterranean fever should be considered in patients with PFAPA who do not respond to adenotonsillectomy.
January 2018: Journal of Pediatrics
Luca Cantarini, Antonio Vitale, Ludovico Luca Sicignano, Giacomo Emmi, Elena Verrecchia, Isabella Patisso, Lucia Cerrito, Claudia Fabiani, Gabriele Cevenini, Bruno Frediani, Mauro Galeazzi, Donato Rigante, Raffaele Manna
OBJECTIVE: To identify a set of variables that could discriminate patients with adult-onset periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome from subjects with fever of unknown origin (FUO). METHODS: We enrolled 74 adults diagnosed with PFAPA syndrome according to the currently used pediatric diagnostic criteria and 62 additional patients with FUO. After having collected clinical and laboratory data from both groups, univariate and multivariate analyses were performed to identify the variables associated with PFAPA diagnosis...
2017: Frontiers in Immunology
Jefferson Terry, Kelly Brown, Joanne Hiebert, Ghada N Al-Rawahi, J Paul Moxham, Mel Krajden, Agatha N Jassem, Lori Tucker
Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is a common cause of periodic fever in children. The pathogenesis of PFAPA is unknown but likely involves immune system dysregulation and may be initiated by an environmental trigger. Tonsillectomy resolves or improves symptoms in some patients, but the reason for this is unknown; moreover, specific abnormalities in tonsillectomy specimens from PFAPA patients have not been described. Here, we report measles virus in tonsil from a child with PFAPA...
January 1, 2017: Pediatric and Developmental Pathology
Kalpana Manthiram, Hernan Correa, Kelli Boyd, Joseph Roland, Kathryn Edwards
The objective of this study is to compare the histology and immune cell composition of tonsils from patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome to those from patients with obstructive sleep apnea (OSA). Patients with PFAPA and age-matched controls with OSA who had undergone tonsillectomy at Vanderbilt Children's Hospital were recruited. After informed consent, archival paraffin-embedded, formalin-fixed tonsil tissues were obtained. Sizes of major histologic regions were measured...
July 26, 2017: Clinical Rheumatology
Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry
The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed...
June 3, 2017: Clinical Reviews in Allergy & Immunology
Kalpana Manthiram, Sivia Lapidus, Kathryn Edwards
PURPOSE OF REVIEW: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is considered the most common periodic fever syndrome of childhood. Although it was first described three decades ago, the pathogenesis has been poorly understood. Recent studies on the heritability and immunology of the disorder have begun to shed light into the mechanisms of this autoinflammatory disorder. This review will focus on the pathogenesis of PFAPA, especially as it pertains to the genetic susceptibility, tonsillar immunology, and the role of the microbiome...
September 2017: Current Opinion in Rheumatology
Sylvie Grandemange, Sébastien Cabasson, Guillaume Sarrabay, Jérôme Pène, Cécile Rittore, Elodie Sanchez, Marie-Caroline Chastang, Gaël Guyon, Pascal Pillet, Isabelle Touitou
BACKGROUND: TNF receptor-associated syndrome (TRAPS) is a dominantly inherited autoinflammatory condition caused by mutations in the TNFRSF1A gene. The mechanism underlying the variable expressivity of the common variant R92Q (rs4149584; c.362G>A; p.Arg121Gln) is unclear and is of critical importance for patient care and genetic counseling. This study evaluated the impact of the number of R92Q mutations in two unique unrelated families. METHODS: Two patients with undefined but clear autoinflammatory symptoms were referred for genetic diagnosis...
March 2017: Molecular Genetics & Genomic Medicine
Vira B Semianchuk
INTRODUCTION: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome refers to a group of primary immunodeficiencies, namely autoinflammatory diseases. Most pediatricians and otolaryngologists do not suspect PFAPA syndrome when treating recurrent pharyngitis (according to Ukrainian classification - tonsillitis) and stomatitis. Therefore, patients with a given syndrome receive unnecessary treatment (antibiotic therapy or antiviral drugs) and the diagnosis is made late...
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
Kalpana Manthiram, Suzanne C Li, Jonathan S Hausmann, Gil Amarilyo, Karyl Barron, Hanna Kim, Simona Nativ, Geraldina Lionetti, Andrew Zeft, Donald Goldsmith, David Kimberlin, Kathryn Edwards, Fatma Dedeoglu, Sivia Lapidus
To assess the practice patterns of pediatric rheumatology and infectious diseases subspecialists in the diagnosis and treatment of periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome. An online survey assessing diagnostic and treatment approaches was sent to 424 members of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) and 980 members of the Pediatric Infectious Disease Society (PIDS). 277 physicians (123 from CARRA and 154 from PIDS representing 21% of the total membership) completed the survey...
June 2017: Rheumatology International
Muhammed Gunes, Sukru Cekic, Sara Sebnem Kilic
BACKGROUND: Periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis (PFAPA) syndrome is the most frequent repetitive fever syndrome in childhood. It is characterized by fever episodes lasting for approximately 3-6 days, once every 3-8 weeks. METHODS: Clinical and laboratory data for PFAPA syndrome patients between January 2010 and December 2014 followed up at a tertiary pediatric care hospital were reviewed. RESULTS: Four hundred children (256 male, 144 female; mean age at diagnosis, 4...
June 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
Merav Lidar, Eitan Giat
Autoinflammatory diseases (AID) are characterized by seemingly unprovoked self-limited attacks of fever and systemic inflammation potentially leading to amyloidosis. Familial Mediterranean fever (FMF) is the most common AID and therefore the most studied. Besides FMF, the other main hereditary AID are tumor necrosis factor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD), and cryopyrin-associated periodic fever syndrome (CAPS). These hereditary diseases result from a mutant gene that is involved in the regulation of inflammation, resulting in a characteristic clinical phenotype...
January 30, 2017: Rambam Maimonides Medical Journal
Taizo Wada, Tomoko Toma, Yusuke Matsuda, Akihiro Yachie, Saori Itami, Yoshihiro Taguchi, Yoshiki Murakami
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in MEFV. Mutations in exon 10 are associated with typical FMF phenotypes, whereas the pathogenic role of variants in exons 2 and 3 remains uncertain. Recent evidence suggests that circulating microRNAs are potentially useful biomarkers in several diseases. Therefore, their expression was assessed in FMF. METHODS: The subjects were 24 patients with FMF who were between attacks: 8 with exon 10 mutations (group A), 8 with exon 3 mutations (group B), and 8 without exon 3 or 10 mutations (group C)...
February 6, 2017: Modern Rheumatology
Ming Sin Cheung, Katerina Theodoropoulou, Jérôme Lugrin, Fabio Martinon, Nathalie Busso, Michaël Hofer
Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) is a relatively common autoinflammatory condition that primarily affects children. Although tendencies were reported for this syndrome, genetic variations influencing risk and disease progression are poorly understood. In this study, we performed next-generation sequencing for 82 unrelated PFAPA patients and identified a frameshift variant in the CARD8 gene (CARD8-FS). Subsequently, we compared the frequency of CARD8-FS carriers in our PFAPA cohort (13...
March 1, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
Jochen P Windfuhr
Background: One of the most significant clinical trials, demonstrating the efficacy of tonsillectomy (TE) for recurrent throat infection in severely affected children, was published in 1984. This systematic review was undertaken to compile various indications for TE as suggested in the literature after 1984 and to stratify the papers according to the current concept of evidence-based medicine. Material and methods: A systematic Medline research was performed using the key word of "tonsillectomy" in combination with different filters such as "systematic reviews", "meta-analysis", "English", "German", and "from 1984/01/01 to 2015/05/31"...
2016: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
Keiko Yamagami, Tomoyuki Nakamura, Ryota Nakamura, Yusuke Hanioka, Kaori Seki, Hiroshi Chiba, Keiko Kobayashi, Kazunaga Agematsu
Familial Mediterranean fever (FMF) can be classified into typical and incomplete/atypical types. Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) syndrome-like symptoms have been found in atypical type carrying P369S-R408Q mutations in the responsible gene MEFV. A 28-year-old female with recurrent fever and her young sisters and mother, all of whom had tonsillectomy for tonsillitis, carried heterozygous alterations involving E148Q/P369S/R408Q. A diagnosis of atypical FMF, MEFV exon3 variants with PFAPA syndrome-like symptoms, was made...
March 2017: Modern Rheumatology
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